Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
distal arthrogryposis type 1B	DOID_0111598	[A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in MYBPC1 on chromosome 12q23.2.]
distal arthrogryposis type 1	DOID_0111596	[A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.]
cataract 22 multiple types	DOID_0110268	[A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.]
cataract 31 multiple types	DOID_0110265	[A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11.]
distal arthrogryposis type 1A	DOID_0111597	[A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in TPM2 on chromosome 9p13.3.]
cataract 9 multiple types	DOID_0110266	[A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.]
lymphoid interstitial pneumonia	DOID_0050159	[An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.]
desquamative interstitial pneumonia	DOID_0050158	[An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.]
acute diarrhea	DOID_0050140	[A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.]
carboxypeptidase N deficiency	DOID_0111583	[A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in CPN1 on chromosome 10q24.2.]
cataract 37	DOID_0110252	[A cataract that has_material_basis_in variation in the region 12q24.2-q24.3.]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	DOID_0111584	[A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22.]
cataract 14 multiple types	DOID_0110253	[A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.]
C syndrome	DOID_0111581	[A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2.]
cataract 16 multiple types	DOID_0110250	[A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.]
intestinal botulism	DOID_0050141	[A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins.]
cataract 15 multiple types	DOID_0110251	[A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.]
hereditary arterial and articular multiple calcification syndrome	DOID_0111582	[A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3.]
Kartagener syndrome	DOID_0050144	[A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.]
asymptomatic dengue	DOID_0050143	[A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.]